Malgorzata I Srebniak
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Explore the profile of Malgorzata I Srebniak including associated specialties, affiliations and a list of published articles.
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46
Citations
453
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Recent Articles
1.
Eggenhuizen G, Go A, Hoffer M, Goedegebuur-Zwalua E, Srebniak M, Van Opstal D
Prenat Diagn
. 2024 Oct;
44(12):1462-1469.
PMID: 39389929
Objective: Confined placental mosaicism (CPM) is associated with an increased risk for pregnancy complications, such as fetal growth restriction (FGR), preterm birth and hypertensive disorders. Pregnancies with possible CPM can...
2.
Diderich K, Bruggenwirth H, Joosten M, Thurik F, Mijalkovic J, Polak M, et al.
Prenat Diagn
. 2024 Sep;
44(12):1444-1450.
PMID: 39349395
Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies. Methods: We performed a retrospective analysis of the...
3.
Skojo M, Srebniak M, Henneman L, Sistermans E, van der Meij K
Best Pract Res Clin Obstet Gynaecol
. 2024 Sep;
97:102543.
PMID: 39243520
The Dutch NIPT Consortium, a multidisciplinary collaboration of stakeholders in prenatal care initiated and launched the TRIDENT studies. The goal of the TRIDENT studies was to implement non-invasive prenatal testing...
4.
Eggenhuizen G, Go A, Sauter Z, Hoffer M, Haak M, Geeven G, et al.
Prenat Diagn
. 2024 Feb;
44(3):289-296.
PMID: 38342960
Objective: To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas in terms of chromosome aberration, cell lineage involved and trisomy...
5.
Husen S, Visser E, Srebniak M, Diderich K, Groenenberg I, Steegers-Theunissen R, et al.
Eur J Obstet Gynecol Reprod Biol
. 2024 Jan;
294:58-64.
PMID: 38218159
Objective: To evaluate perinatal and postnatal outcomes of fetuses with an isolated small head circumference (HC) on expert ultrasound examination in the second trimester for further recommendations in prenatal care....
6.
Donze S, Srebniak M, Diderich K, van den Born M, Galjaard R, Govaerts L, et al.
Prenat Diagn
. 2023 Dec;
44(4):401-408.
PMID: 38141050
Objectives: Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic follow-up testing is required. The aim of...
7.
Diderich K, Klapwijk J, van der Schoot V, van den Born M, Wilke M, Joosten M, et al.
Eur J Med Genet
. 2023 Nov;
67:104884.
PMID: 37972850
No abstract available.
8.
van Zutven L, Mijalkovic J, van Veghel-Plandsoen M, Goense M, Polak M, Knapen M, et al.
Mol Cytogenet
. 2023 Sep;
16(1):26.
PMID: 37775759
Background: Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT)...
9.
Eikenboom E, Wilting S, Deger T, Srebniak M, van Veghel-Plandsoen M, Boers R, et al.
Cancers (Basel)
. 2023 Sep;
15(18).
PMID: 37760576
Colorectal cancer (CRC) colonoscopic surveillance is effective but burdensome. Circulating tumor DNA (ctDNA) analysis has emerged as a promising, minimally invasive tool for disease detection and management. Here, we assessed...
10.
Diderich K, Klapwijk J, van der Schoot V, van den Born M, Wilke M, Joosten M, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104844.
PMID: 37709011
Background: Although in general prenatal exome sequencing only reports (likely) pathogenic variants, in some cases a variant of uncertain significance (VUS) is disclosed. The aims of this retrospective study were...